928
Our patient demonstrates typical throughout life; however, they usu-
clinical and X-ray ®ndings of ally do not have disproportionately
MOPD type II. The main dierences small head circumferences during
of MOPD type II fromthe other infancy. Moderate developmental
types are disproportionately short delay and mental retardation have
extremities ꢀespecially forearms and been reported in most patients.
Diagnosis: Microcephalic
osteodysplastic primordial
dwar®sm type II
hands) and distinctive radiological
®ndings, which are seen in our
patient's X-rays. Additional radio-
logical ®ndings include small iliac
wings with a high narrow pelvis and autosomal recessive inheritance,
¯at acetabular angles, coxa vara, similar to Seckel syndrome and the
epiphyseolysis of the femoral heads other MOPD types, is likely with
and pseudoephyphyses of metacar-
pals [3, 4]. Craniosynostosis has
been reported in one case [5].
Although children with type II have studies and did not give a clue for
microcephaly as a ®nding, they do the chromosomal location of the
Normal mental development has
also been reported [1].
Since consanguinity has been noted
in about 33% of the families,
Discussion
This patient demonstrates a severe
prenatal onset of growth retardation
along with a group of distinctive
physical examination and X-ray
®ndings. Seckel syndrome is a well
known example of Mendelian dis-
orders causing severe pre- and post-
natal growth retardation; however,
the presence of dysplastic bone
changes in our patient ruled out that
diagnosis.
25% recurrence risk in the sub-
sequent pregnancies [4]. All reported
cases had normal chromosomal
not demonstrate a sloping forehead syndromic gene [4].
with a disproportionally small head
at birth giving a ``bird-head'' ap-
In 1982, Majewski et al. [3, 4] ®rst
described three dierent types of
``microcephalic ostedysplastic pri-
mordial dwar®sm'' ꢀMOPD I-III)
after carefully reviewing previous
reports with Seckel syndrome and
their own cases. Later, it became
clear that types I and III are variant
manifestations of the same entity. In
1992, a new type III MOPD was
described [2]. Children with MOPD
type I have Seckel syndrome-like
facial features, signi®cant micro-
cephaly with sloping forehead and
severe prenatal onset growth retar-
dation. Their skeletal ®ndings in-
clude short and bowed humeri and
femora, elongated clavicles, cleft
vertebral arches, lumbar platy-
spondyly, enlarged metaphyses,
dysplasia of the pelvis and disloca-
tion of hips. In recently described
type III however, concave impres-
sions of the vertebral bodies, cone
shaped phalangeal epiphyses and
thin diaphyses with medullary
stenosis were reported [2].
pearance along with a prominent
nose and micrognathia, which is seen
in MOPD type I. Our patient clearly
does not fall into the type I category
with a more proportionate micro-
cephaly and lack of appropriate
skeletal ®ndings.
Since the initial description of the
MOPD type II, 19 patients have
been reported [1, 3]. An interesting
observation among these patients
was that typical limb ®ndings
References
1. Halder A, Sharma AK, Bhatia VL,
Phadke RV, Gujral R, Agarwal SS
ꢀ1998) Ostedysplastic primordial
dwar®smtype II with normal intellect
but delayed central nervous system
myelination. Am J Med Genet 80:
12±15
2. Majewski F ꢀ1992) Caroline Crachami
and the delineation of ostedysplastic
primordial dwar®sm type III, an
autosomal recessive syndrome. Am J
Med Genet 44: 203±209
disappeared in some children as they 3. Majewski F, Goecke T ꢀ1982) Studies
of microcephalic primordial dwar®sm
II: the osteodysplastic type II of
primordial dwar®sm. Am J Med Genet
12: 23±35
got older [1]. Thus, it is important to
obtain skeletal surveys during
infancy in order to make the diag-
nosis of MOPD type II. In MOPD
type II, post-natal growth is usually
delayed by more than 5 to 6 SD with
mean birth measurements being
approximately 1300 g for weight,
35 cmfor length and 26.8 cmfor
head circumference [3]. There are
insucient data on the ®nal height
of the patients, although less than
100 cmadult height was reported.
The patients remain microcephalic
4. Majewski F, Goecke TO ꢀ1998)
Microcephalic ostedysplastic primordial
dwar®smtype II: report of three
cases and review. AmJ Med Genet 80:
25±33
5. Spranger S, Tariverdian G, Albert FK,
Sontheimer D, Zoller J, Weber M,
Troger J ꢀ1996) Microcephalic
osteodysplastic primordial dwar®sm
type II: a child with unusual symptoms
and clinical course. Eur J Pediatr 155:
796±799